Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors

Pathway network for the Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors SuperPath

Sources:
  • Reactome

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3004.97
2Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3004.97
3Lung non-small cell carcinomaEnrichmentEGFR, ERBB24.20
4Bladder cancerEnrichmentCDKN1A, EGFR, ERBB24.15
5Lip and oral cavity carcinomaEnrichmentEGFR, KIT4.13
6Rare genetic intellectual disabilityEnrichmentCREBBP, EP3004.13
7Acute myeloid leukemia with maturationEnrichmentKIT, NPM14.12
8Lung cancer susceptibility 3EnrichmentEGFR, ERBB23.99
9Ovarian cancerEnrichmentEGFR, ERBB2, KIT3.77
10Axenfeld-rieger syndrome, type 1EnrichmentPITX23.53
11Anterior segment dysgenesis 4EnrichmentPITX23.53
12Ring dermoid of corneaEnrichmentPITX23.53
13Atrial septal defect 8EnrichmentCITED23.53
14Sinus venosus atrial septal defectEnrichmentCITED23.53
15Intellectual developmental disorder, autosomal recessive 65EnrichmentKDM5B3.43
16Spastic paraplegia 13, autosomal dominantEnrichmentHSPD13.43
17Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM13.43
18Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM13.43
19Lung cancerEnrichmentEGFR, ERBB23.26
20Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalitiesEnrichmentPITX23.23
21Atrial fibrillation, familial, 1EnrichmentPITX23.23
22Ventricular septal defect 2EnrichmentCITED23.23
23EsotropiaEnrichmentTFAP2A3.23
24Axenfeld-rieger syndromeEnrichmentPITX23.23
25Lens subluxationEnrichmentTFAP2A3.23
26Burkitt lymphomaEnrichmentMYC3.13
27Leukodystrophy, hypomyelinating, 4EnrichmentHSPD13.13
28Acute myeloid leukemia without maturationEnrichmentNPM13.13
29Lymphomatoid papulosisEnrichmentNPM13.13
30Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM13.13
31Char syndromeEnrichmentTFAP2B3.13
32Scalp-ear-nipple syndromeEnrichmentKCTD13.13
33Orofacial cleft 10EnrichmentSUMO13.13
34Patent ductus arteriosus 2EnrichmentTFAP2B3.13
35Esophagus squamous cell carcinomaEnrichmentWWOX3.13
36Menke-hennekam syndrome 1EnrichmentCREBBP3.05
37Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP3.05
38Menke-hennekam syndromeEnrichmentCREBBP3.05
39High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC2.96
40Paget disease, extramammaryEnrichmentERBB22.96
41Mastocytosis, cutaneousEnrichmentKIT2.96
42Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.96
43Microvascular complications of diabetes 1EnrichmentVEGFA2.96
44Chronic mast cell leukemiaEnrichmentKIT2.96
45Isolated bone marrow mastocytosisEnrichmentKIT2.96
46Smoldering systemic mastocytosisEnrichmentKIT2.96
47MastocytosisEnrichmentKIT2.96
48Cutaneous mastocytomaEnrichmentKIT2.96
49Typical urticaria pigmentosaEnrichmentKIT2.96
50Nodular urticaria pigmentosaEnrichmentKIT2.96
51Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT2.96
52Telangiectasia macularis eruptiva perstansEnrichmentKIT2.96
53Acute mast cell leukemiaEnrichmentKIT2.96
54Plaque-form urticaria pigmentosaEnrichmentKIT2.96
55Serous carcinoma of the corpus uteriEnrichmentERBB22.96
56Bullous diffuse cutaneous mastocytosisEnrichmentKIT2.96
57Testis seminomaEnrichmentKIT2.96
58Branchiooculofacial syndromeEnrichmentTFAP2A2.93
59AmblyopiaEnrichmentTFAP2A2.83
60Developmental and epileptic encephalopathy 28EnrichmentWWOX2.83
61Spinocerebellar ataxia, autosomal recessive 12EnrichmentWWOX2.83
62Familial patent arterial ductEnrichmentTFAP2B2.83
63Tooth agenesisEnrichmentSUMO1, TGFA2.77
64Branchiootorenal syndrome 1EnrichmentTFAP2A2.75
65Thumb deformityEnrichmentCREBBP2.75
66Menke-hennekam syndrome 2EnrichmentEP3002.75
67Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.75
68Branchiootorenal syndromeEnrichmentTFAP2A2.69
69Piebald traitEnrichmentKIT2.66
70Gabriele-de vries syndromeEnrichmentYY12.66
71Developmental and epileptic encephalopathy 78EnrichmentYY12.66
72InsulinomaEnrichmentYY12.66
73B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT2.66
74Multiple endocrine neoplasia, type iEnrichmentCDKN1A2.59
75Tethered spinal cord syndromeEnrichmentCREBBP2.58
76Intraocular pressure quantitative trait locusEnrichmentCREBBP2.58
77Sea-blue histiocyte diseaseEnrichmentAPOE2.55
78Lipoprotein glomerulopathyEnrichmentAPOE2.55
79Cat eye syndromeEnrichmentTFAP2A2.53
80Peters-plus syndromeEnrichmentPITX22.53
81Estrogen resistanceEnrichmentESR12.48
82Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR2.48
83Testicular germ cell cancerEnrichmentKIT2.48
84Migraine without auraEnrichmentESR12.48
85Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR2.48
86EpicanthusEnrichmentTFAP2A2.45
87Congenital nervous system abnormalityEnrichmentCREBBP, WWOX2.42
88Nervous system diseaseEnrichmentCREBBP, WWOX2.42
89Intestinal pseudo-obstructionEnrichmentTFAP2B2.35
90Rubinstein-taybi syndrome 2EnrichmentEP3002.35
91Barrett esophagusEnrichmentERBB22.35
92Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR12.35
93Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT2.35
94Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT2.35
95Anterior segment dysgenesisEnrichmentPITX22.35
96Acute promyelocytic leukemiaEnrichmentNPM12.32
97Esophageal cancerEnrichmentWWOX2.29
98HypertrichosisEnrichmentCREBBP2.28
99Patent foramen ovaleEnrichmentCITED22.28
100Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT2.26
101Leukemia, acute myeloidEnrichmentKIT, NPM12.25
102Alzheimer disease 3EnrichmentAPOE2.25
103Hyperlipoproteinemia, type iiiEnrichmentAPOE2.25
104Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentDEK2.25
105MicrophthalmiaEnrichmentTFAP2A2.19
106Cowden syndrome 1EnrichmentEGFR2.18
107Testicular germ cell tumorEnrichmentKIT2.18
108Lung squamous cell carcinomaEnrichmentEGFR2.18
109Dyskeratosis congenitaEnrichmentNPM12.16
110Familial atrial fibrillationEnrichmentPITX22.15
111LeukodystrophyEnrichmentHSPD12.13
112Tetralogy of fallotEnrichmentCITED22.12
113Squamous cell carcinoma, head and neckEnrichmentEGFR2.11
114Gastrointestinal stromal tumorEnrichmentKIT2.11
115Charge syndromeEnrichmentEP3002.10
116Alzheimer disease 4EnrichmentAPOE2.08
117Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC2.07
118Glioma susceptibility 1EnrichmentERBB22.05
119Inherited cancer-predisposing syndromeEnrichmentEGFR, KIT2.04
120Visceral heterotaxy 5EnrichmentCITED22.04
12146,xy partial gonadal dysgenesisEnrichmentWWOX1.99
122Macular degeneration, age-related, 1EnrichmentAPOE1.95
123Migraine with or without aura 1EnrichmentESR11.92
124Heart diseaseEnrichmentCREBBP1.91
125Polydactyly, postaxial, type a1EnrichmentEP3001.88
126Corpus callosum, agenesis ofEnrichmentCREBBP1.88
127Isolated corpus callosum agenesisEnrichmentCREBBP1.88
128Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.88
129Alzheimer disease 2EnrichmentAPOE1.86
130CraniosynostosisEnrichmentTFAP2B1.83
131HypertelorismEnrichmentTFAP2A1.82
132Diffuse large b-cell lymphomaEnrichmentCREBBP1.78
133Lipid metabolism disorderEnrichmentAPOE1.78
134GliosarcomaEnrichmentEGFR1.76
135Developmental and epileptic encephalopathy 1EnrichmentWWOX1.74
136Autosomal dominant non-syndromic intellectual disabilityEnrichmentKDM5B1.74
137Giant cell glioblastomaEnrichmentEGFR1.73
138Arteriovenous malformations of the brainEnrichmentEGFR1.68
139ScoliosisEnrichmentCREBBP1.68
140Autosomal recessive non-syndromic intellectual disabilityEnrichmentKDM5B1.67
141Myocardial infarctionEnrichmentESR11.62
142Colorectal cancerEnrichmentEP300, ERBB21.61
143EpilepsyEnrichmentWWOX1.54
144Benign epilepsy with centrotemporal spikesEnrichmentWWOX1.53
145Centralopathic epilepsyEnrichmentWWOX1.50
146Hirschsprung disease 1EnrichmentERBB21.50
147West syndromeEnrichmentWWOX1.50
148Alzheimer's diseaseEnrichmentAPOE1.45
149Autism spectrum disorderEnrichmentKDM5B1.40
150Undetermined early-onset epileptic encephalopathyEnrichmentWWOX1.39
151Familial hypercholesterolemiaEnrichmentAPOE1.38
152Gastric cancerEnrichmentERBB21.33
153Alzheimer disease, familial, 1EnrichmentAPOE1.33
154Hereditary breast carcinomaEnrichmentESR11.32
155Myeloma, multipleEnrichmentCREBBP1.31
156AutismEnrichmentCREBBP1.21
157Breast cancerEnrichmentESR11.10
158MicrocephalyEnrichmentEP3000.98

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